HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135798115A>C , CM000664.2:g.135798115A>C | GRCh38 |
NC_000002.11:g.136555685A>C , CM000664.1:g.136555685A>C | GRCh37 |
NC_000002.10:g.136272155A>C | NCBI36 |
NG_008104.2:g.62055T>G , LRG_338:g.62055T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264162.7:c.4890T>G MANE Select | ENSP00000264162.2:p.His1630Gln | |
ENST00000264162.6:c.4890T>G | ENSP00000264162.2:p.His1630Gln | |
ENST00000452974.1:c.2983T>G | ENSP00000391231.1:p.Ser995Ala | |
NM_002299.2:c.4890T>G , LRG_338t1:c.4890T>G | NP_002290.2:p.His1630Gln | |
NM_002299.3:c.4890T>G | NP_002290.2:p.His1630Gln | |
XM_017004088.2:c.4890T>G | XP_016859577.1:p.His1630Gln | |
NM_002299.4:c.4890T>G MANE Select | NP_002290.2:p.His1630Gln |